Terminal deletion of chromosome 6q.
Terminal deletions of chromosome 6q are rare. Clinical features associated with 6q terminal deletion syndrome include psychomotor retardation, seizures, hypotonia, short neck, and facial abnormalities, as well as various case-specific anomalies. Here, we describe a girl with 6q terminal deletion syndrome and unusually short stature. Features of previously described patients are also summarized.
Su
Pen-Hua
PH
Department of Pediatrics, Division of Neonatology, Chung Shan Medical University Hospital, Taichung, Taiwan.
Chen
Jia-Yuh
JY
Chen
Suh-Jen
SJ
Yang
Kai-Chi
KC
D000293:Adolescent; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D019382:Human Growth Hormone / Q000627:therapeutic use; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008831:Microcephaly / Q000235:genetics
D019382:Human Growth Hormone